Variant report

Variant	rs4699654
Chromosome Location	chr4:99480152-99480153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96237471..96240020-chr4:99477884..99480366,2	K562	blood:
2	chr4:99479404..99481203-chr4:99500448..99502208,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10026446	0.85[JPT][hapmap]
rs10489125	0.90[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs10516433	0.82[JPT][hapmap]
rs10516434	0.82[JPT][hapmap]
rs1547382	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1554849	0.82[JPT][hapmap]
rs17027639	0.92[TSI][hapmap]
rs17027799	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs17027802	0.81[CHB][hapmap]
rs17498778	1.00[JPT][hapmap]
rs17499015	0.82[JPT][hapmap]
rs17564872	0.82[JPT][hapmap]
rs57541793	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62323626	0.82[ASN][1000 genomes]
rs6532740	0.82[JPT][hapmap]
rs6532746	0.82[JPT][hapmap]
rs6840610	0.82[JPT][hapmap]
rs6853079	0.82[JPT][hapmap]
rs73832354	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7666573	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666585	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667273	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7689289	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99468400-99482200	Weak transcription	Esophagus	oesophagus
3	chr4:99469000-99482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:99475200-99482400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:99475400-99481400	Enhancers	Brain Hippocampus Middle	brain
6	chr4:99475400-99482000	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:99475400-99482200	Enhancers	Brain Angular Gyrus	brain
8	chr4:99475600-99480600	Enhancers	Brain Germinal Matrix	brain
9	chr4:99475600-99481400	Enhancers	Brain Substantia Nigra	brain
10	chr4:99475800-99482200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:99476000-99481200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:99476000-99482200	Enhancers	Fetal Brain Female	brain
13	chr4:99477200-99482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:99477400-99480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:99477400-99486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:99477400-99487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:99477400-99487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:99477800-99482800	Weak transcription	HMEC	breast
19	chr4:99478000-99483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:99478200-99480200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:99478200-99480200	Enhancers	Ovary	ovary
22	chr4:99478200-99480400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:99478200-99481800	Enhancers	Brain Anterior Caudate	brain
24	chr4:99478400-99480200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:99478400-99480200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:99478400-99480200	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:99478400-99480400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:99478600-99481800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:99478600-99482200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:99478800-99480400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:99478800-99480400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:99478800-99480400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:99478800-99482200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:99479000-99480600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:99479000-99480800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:99479000-99480800	Weak transcription	Fetal Brain Male	brain
37	chr4:99479000-99480800	Weak transcription	Fetal Heart	heart
38	chr4:99479000-99486800	Weak transcription	Fetal Lung	lung
39	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
40	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
41	chr4:99479200-99480400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr4:99479200-99481200	Weak transcription	HSMM	muscle
43	chr4:99479200-99482200	Weak transcription	NHEK	skin
44	chr4:99479200-99482400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:99479200-99482400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:99479200-99482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:99479200-99484400	Weak transcription	HUVEC	blood vessel
48	chr4:99479200-99486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:99479200-99486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:99479200-99487000	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links